Canonical Allele Identifier: CA394324937

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090348G>C , CM000678.2:g.2090348G>C	GRCh38
NC_000016.9:g.2140349G>C , CM000678.1:g.2140349G>C	GRCh37
NC_000016.8:g.2080350G>C	NCBI36
NG_005895.1:g.46043G>C , LRG_487:g.46043G>C
NG_008617.1:g.52873C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12381C>G MANE Select	ENSP00000262304.4:p.Tyr4127Ter
ENST00000262304.8:c.12381C>G	ENSP00000262304.4:p.Tyr4127Ter
ENST00000423118.5:c.12378C>G	ENSP00000399501.1:p.Tyr4126Ter
ENST00000472577.1:n.409C>G
NM_000296.3:c.12378C>G	NP_000287.3:p.Tyr4126Ter
NM_001009944.2:c.12381C>G	NP_001009944.2:p.Tyr4127Ter
XM_005255370.2:c.9336C>G	XP_005255427.1:p.Tyr3112Ter
XM_011522525.1:c.12459C>G	XP_011520827.1:p.Tyr4153Ter
XM_011522526.1:c.12456C>G	XP_011520828.1:p.Tyr4152Ter
XM_011522527.1:c.12441C>G	XP_011520829.1:p.Tyr4147Ter
XM_011522528.1:c.12435C>G	XP_011520830.1:p.Tyr4145Ter
XM_011522529.1:c.12432C>G	XP_011520831.1:p.Tyr4144Ter
XM_011522530.1:c.12405C>G	XP_011520832.1:p.Tyr4135Ter
XM_011522531.1:c.12387C>G	XP_011520833.1:p.Tyr4129Ter
XM_011522532.1:c.12333C>G	XP_011520834.1:p.Tyr4111Ter
XM_011522533.1:c.12252C>G	XP_011520835.1:p.Tyr4084Ter
XM_011522534.1:c.12195C>G	XP_011520836.1:p.Tyr4065Ter
XM_011522535.1:c.10281C>G	XP_011520837.1:p.Tyr3427Ter
XM_011522537.1:c.9459C>G	XP_011520839.1:p.Tyr3153Ter
XR_932867.1:n.12299C>G
XM_005255370.3:c.9336C>G	XP_005255427.1:p.Tyr3112Ter
XM_011522528.3:c.12435C>G	XP_011520830.1:p.Tyr4145Ter
XM_011522529.2:c.12432C>G	XP_011520831.1:p.Tyr4144Ter
XM_011522537.2:c.9459C>G	XP_011520839.1:p.Tyr3153Ter
XM_024450298.1:c.12501C>G	XP_024306066.1:p.Tyr4167Ter
XM_024450299.1:c.12429C>G	XP_024306067.1:p.Tyr4143Ter
XM_024450300.1:c.12291C>G	XP_024306068.1:p.Tyr4097Ter
XM_024450301.1:c.10377C>G	XP_024306069.1:p.Tyr3459Ter
NM_000296.4:c.12378C>G	NP_000287.4:p.Tyr4126Ter
NM_001009944.3:c.12381C>G MANE Select	NP_001009944.3:p.Tyr4127Ter